Canonical Allele Identifier: CA14394866
Gene:

Linked Data

dbSNP Id: rs7221412
gnomAD v2: 17-8041014-A-G
gnomAD v3: 17-8137696-A-G
gnomAD v4: 17-8137696-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137696A>G , CM000679.2:g.8137696A>G GRCh38
NC_000017.10:g.8041014A>G , CM000679.1:g.8041014A>G GRCh37
NC_000017.9:g.7981739A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934202.1:n.183-1153A>G
XR_934203.1:n.70-1781A>G
XR_934202.2:n.414-1153A>G